Newborn Health Screenings Expanded Under State Budget Adjustments

A provision in the latest budget bill would expand the state's standards on screening newborns for metabolic and congenital diseases.

The measure adds three rare diseases to the list of required screenings at birth. Bill sponsors say it brings the state in line with federal standards.

Republican State Rep. Dr. Greg Murphy said conditions like Pompe disease usually do not present themselves until months after birth.

"By then, many of the effects on the heart, lung and GI tract are permanent, yet if discovered in the newborn period - thanks to a discovery right here at Duke University - treatment can begin, which can prolong ventilator-free survival as well as overall survival," Murphy said Wednesday.

Doctors at Duke have been developing a gene therapy for Pompe disease, which is a metabolic disease that can degrade tissue, leading to heart failure and death. They hope to start clinical trials this fall.

Republican Rep. Donna White of Johnston County put her support behind the bill. White is a registered nurse who formerly worked in intenstive care units.

"If we had had these tests then, and the equipment and the knowledge base, we could have avoided many young people not having the full life that they can have now because of these tests," White said.

The budget proposal increases the fee for newborn screening from $44 to $128 to cover costs of the extra equipment and personnel. Lawmakers say those costs are covered by private insurance and Medicaid for most parents. The measure would allow families to opt out of the screening with approval from their doctors.

Lawmakers expect final votes on the proposed budget by the end of the week.